Canonical Allele Identifier: CA460846518

Gene: CHD7

Linked Data

• gnomAD v4: 8-60861026-G-T
• MyVariant Identifiers: chr8:g.61773585G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861026G>T , CM000670.2:g.60861026G>T	GRCh38
NC_000008.10:g.61773585G>T , CM000670.1:g.61773585G>T	GRCh37
NC_000008.9:g.61936139G>T	NCBI36
NG_007009.1:g.187247G>T , LRG_176:g.187247G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.907G>T
ENST00000695851.1:n.111G>T
ENST00000695853.1:c.*790G>T	ENSP00000512218.1:n.*790G>T
ENST00000423902.7:c.7731G>T MANE Select	ENSP00000392028.1:p.Gly2577=
ENST00000423902.6:c.7731G>T	ENSP00000392028.1:p.Gly2577=
ENST00000524602.5:c.1717-1203G>T	ENSP00000437061.1:n.1717-1203G>T
ENST00000531695.1:n.155G>T
ENST00000618450.1:n.123G>T
NM_001316690.1:c.1717-1203G>T	NP_001303619.1:n.1717-1203G>T
NM_017780.3:c.7731G>T	NP_060250.2:p.Gly2577=
XM_011517553.1:c.7821G>T	XP_011515855.1:p.Gly2607=
XM_011517554.1:c.7821G>T	XP_011515856.1:p.Gly2607=
XM_011517555.1:c.7818G>T	XP_011515857.1:p.Gly2606=
XM_011517556.1:c.7699-1170G>T	XP_011515858.1:n.7699-1170G>T
XM_011517557.1:c.5808G>T	XP_011515859.1:p.Gly1936=
XM_011517558.1:c.5358G>T	XP_011515860.1:p.Gly1786=
XM_011517559.1:c.4566G>T	XP_011515861.1:p.Gly1522=
XM_011517553.2:c.7821G>T	XP_011515855.1:p.Gly2607=
XM_011517554.3:c.7821G>T	XP_011515856.1:p.Gly2607=
XM_011517555.2:c.7818G>T	XP_011515857.1:p.Gly2606=
XM_017013612.1:c.7821G>T	XP_016869101.1:p.Gly2607=
XM_017013613.1:c.7728G>T	XP_016869102.1:p.Gly2576=
NM_017780.4:c.7731G>T MANE Select	NP_060250.2:p.Gly2577=